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Ring chromosome 1 syndrome

Disease definition

Ring chromosome 1 syndrome is an autosomal anomaly characterized by variable clinical features, most commonly including significant intrauterine and postnatal growth failure, developmental delay, intellectual disability, microcephaly, and dysmorphic facial features. Some less frequent clinical features are dysgenesis of corpus callosum, atrial septal defect, rocker bottom feet and clinodactyly.

ORPHA:1437

Classification level: Disorder
  • Synonym(s):
    • Ring 1
    • Ring chromosome 1
    • r(1) syndrome
  • Prevalence: <1 / 1 000 000
  • Inheritance: -
  • Age of onset: Neonatal
  • ICD-10: Q93.2
  • OMIM: -
  • UMLS: C0265395  C1519099
  • MeSH: C535361
  • GARD: 1320
  • MedDRA: -

Detailed information

Article for general public

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